Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	163175
Gene name Gene Name - the full gene name approved by the HGNC.	Leucine rich repeat LGI family member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LGI4
Synonyms (NCBI Gene) Gene synonyms aliases	AMC1, AMCNMY, LGIL3
Disease Acronyms (UniProt) Disease acronyms from UniProt database	AMC1
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.12\|19q13.11

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201728190	C>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs755500591	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs775997446	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs779232987	C>T	Pathogenic	Missense variant, coding sequence variant
rs1064797093	C>G	Pathogenic	Intron variant
rs1064797094	A>T	Pathogenic	Coding sequence variant, missense variant
rs1064797095	C>A,T	Pathogenic	Intron variant
rs1201430967	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1207534366	A>C,G	Pathogenic	Initiator codon variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs1366269616	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555733773	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555734932	A>C	Likely-pathogenic	5 prime UTR variant, upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1600470099	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(13)

miRTarBase ID	miRNA	Experiments
MIRT1108476	hsa-miR-198	CLIP-seq
MIRT1108477	hsa-miR-2964a-5p	CLIP-seq
MIRT1108478	hsa-miR-3684	CLIP-seq
MIRT2260864	hsa-miR-1250	CLIP-seq
MIRT2260865	hsa-miR-3649	CLIP-seq
MIRT2260866	hsa-miR-3929	CLIP-seq
MIRT2260867	hsa-miR-4419b	CLIP-seq
MIRT2260868	hsa-miR-4478	CLIP-seq
MIRT2260869	hsa-miR-4505	CLIP-seq
MIRT2260870	hsa-miR-4712-5p	CLIP-seq
MIRT2260871	hsa-miR-770-5p	CLIP-seq
MIRT2452988	hsa-miR-922	CLIP-seq
MIRT2683880	hsa-miR-4431	CLIP-seq

Show/Hide all(7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0014009	Process	Glial cell proliferation	IEA
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0031641	Process	Regulation of myelination	IMP	28318499
GO:0042551	Process	Neuron maturation	IEA

MIM	HGNC	e!Ensembl
608303	18712	ENSG00000153902

Protein

UniProt ID

Q8N135

Protein name

Leucine-rich repeat LGI family member 4 (LGI1-like protein 3) (Leucine-rich glioma-inactivated protein 4)

Protein function

Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13855	LRR_8	52 → 112	Leucine rich repeat	Repeat
PF13855	LRR_8	101 → 160	Leucine rich repeat	Repeat
PF03736	EPTP	212 → 251	EPTP domain	Repeat
PF03736	EPTP	351 → 393	EPTP domain	Repeat
PF03736	EPTP	396 → 438	EPTP domain	Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest expression in brain. {ECO:0000269|PubMed:12023020}.

Sequence

MGGAGILLLLLAGAGVVVAWRPPKGKCPLRCSCSKDSALCEGSPDLPVSFSPTLLSLSLV
RTGVTQLKAGSFLRIPSLHLLLFTSNSFSVIEDDAFAGLSHLQYLFIEDNEIGSISKNAL
RGLRSLTHLSLANNHLETLPRFLFRGLDTLTHVDLRGNPFQCDCRVLWLLQWMPTVNASV
GTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQP
FAGRCLILSWDYSLQRFRPEEELPAASVVSCKPLVLGPSLFVLAARLWGGSQLWARPSPG
LRLAPTQTLAPRRLLRPNDAELLWLEGQPCFVVADASKAGSTTLLCRDGPGFYPHQSLHA
WHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYATRHFQAGGD
VFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLR
LEPDKGLLEPLQELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA

Sequence length

537

Interactions

View interactions

	Reactome
			LGI-ADAM interactions

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835 View all (138 more)	16341215, 28318499
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	16341215
Distal arthrogryposis	Distal arthrogryposis syndrome	rs121434638, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs121913619, rs879255230, rs387906657, rs387906658, rs199474721, rs587776917, rs587776918, rs587776919 View all (41 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	16341215

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Hypomyelination Neuropathy-Arthrogryposis Syndrome	hypomyelination neuropathy-arthrogryposis syndrome	GenCC

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining
Arthrogryposis	Associate	28318499, 33820833
Carcinogenesis	Associate	12023020
Demyelinating Diseases	Associate	28318499
Pulmonary Disease Chronic Obstructive	Associate	27814717

LGI4 (leucine rich repeat LGI family member 4)